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The Capital Region of Denmark - a part of Copenhagen University Hospital
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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

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  1. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

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  2. Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort

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  3. Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

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  1. Autism and developmental disability caused by KCNQ3 gain-of-function variants

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  2. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

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  3. Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

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  4. A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

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  5. Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

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Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X-inactivation patterns in target tissues.

Original languageEnglish
JournalClinical Genetics
Volume89
Issue number6
Pages (from-to)733-8
Number of pages6
ISSN0009-9163
DOIs
Publication statusPublished - Jun 2016

    Research areas

  • Journal Article

ID: 48959083